Amy E. Pepper

Statistics

Publications

Citations

304

H-Index

Active since

1995

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Amy E. Pepper is an author at National Human Genome Research Institute specializing in immunodeficiency disorders, life sciences, and molecular genetics.

Publications per year

1995–1997

Publications

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Jennifer M. Puck, Amy E. Pepper, Paula S. Henthorn et al. · PubMed · 1997 · 160 citations

Life Sciences, Genetics, Molecular Genetics +14

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Jennifer M. Puck, Amy E. Pepper, P M Bédard et al. · Journal of Clinical Investigation · 1995 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

Jennifer M. Puck, Lindsay Middelton, Amy E. Pepper · Human Genetics · 1997 · 44 citations

Life Sciences, Genetics, Molecular Genetics +14

Maternal Mosaicism for a Novel Interleukin-2 Receptor γ-Chain Mutation Causing X-Linked Severe CombinedImmunodeficiency in a Navajo Kindred

Aengus O’Marcaigh, Jennifer M. Puck, Amy E. Pepper et al. · Journal of Clinical Immunology · 1997 · 29 citations

Life Sciences, Genetics, Molecular Genetics +14

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

Carla Tassara, Amy E. Pepper, Jennifer M. Puck · Human Molecular Genetics · 1995 · 24 citations

Life Sciences, Genetics, Molecular Genetics +15

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